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镰状细胞性状的新生儿筛查与遗传咨询。

Neonatal screening and genetic counseling for sickle cell trait.

作者信息

Grossman L K, Holtzman N A, Charney E, Schwartz A D

出版信息

Am J Dis Child. 1985 Mar;139(3):241-4. doi: 10.1001/archpedi.1985.02140050035016.

Abstract

In a newborn screening program for abnormal hemoglobins, 91 infants were found to have hemoglobin AS or AC. Their parents were informed and offered genetic counseling, but only 35% accepted. We tested parents' knowledge of sickle disorders before and after the session. The tests were repeated when their babies were 4 to 8 months old; parents of babies with normal hemoglobin and those with sickle trait who had not been counseled were also tested at this time. Parents who received counseling showed an increase in knowledge and retained it until the second interview although 27% did not recall the original session. Uncounseled parents of "trait families" also had knowledge of the condition; in general, trait families knew more about the condition than normals' families. Newborn hemoglobin screening programs prove helpful for certain families but not necessarily for all who may be eligible.

摘要

在一项针对异常血红蛋白的新生儿筛查项目中,发现91名婴儿患有血红蛋白AS或AC。已告知其父母并提供了遗传咨询,但只有35%的父母接受了。我们在咨询前后测试了父母对镰状细胞疾病的了解情况。当他们的孩子4至8个月大时重复进行测试;此时还对血红蛋白正常婴儿的父母以及未接受咨询的镰状细胞性状婴儿的父母进行了测试。接受咨询的父母知识有所增加,并一直保持到第二次访谈,尽管27%的人不记得最初的咨询内容。“性状家庭”中未接受咨询的父母也了解这种情况;总体而言,性状家庭比正常家庭对这种情况了解得更多。新生儿血红蛋白筛查项目对某些家庭有帮助,但不一定对所有符合条件的家庭都有帮助。

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